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Journal Abstract Search

166 related items for PubMed ID: 32644625

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  • 5. Three novel mutations of CHD7 gene in two turkish patients with charge syndrome; A double point mutation and an insertion.
    Bozkaya OG, Ataman E, Randa C, Cura DO, Gürsoy S, Aksel O, Ulgenalp A.
    Balkan J Med Genet; 2015 Jun; 18(1):65-70. PubMed ID: 26929907
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  • 8. Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
    Chen X, Yan K, Gao Y, Wang H, Chen G, Wu B, Qin Q, Yang L, Zhou W.
    BMC Med Genet; 2019 May 30; 20(1):93. PubMed ID: 31146700
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  • 9. CHARGE syndrome.
    Blake KD, Prasad C.
    Orphanet J Rare Dis; 2006 Sep 07; 1():34. PubMed ID: 16959034
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  • 11. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
    Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW.
    Am J Hum Genet; 2006 Feb 07; 78(2):303-14. PubMed ID: 16400610
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  • 12. Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome.
    Graham JM, Rosner B, Dykens E, Visootsak J.
    Am J Med Genet A; 2005 Mar 15; 133A(3):240-7. PubMed ID: 15637708
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  • 13. Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome.
    Shoji Y, Ida S, Etani Y, Yamada H, Kayatani F, Suzuki Y, Kosaki K, Okamoto N.
    Clin Pediatr Endocrinol; 2014 Apr 15; 23(2):45-51. PubMed ID: 24790386
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  • 15. A case of mild CHARGE syndrome associated with a splice site mutation in CHD7.
    Wells C, Loundon N, Garabedian N, Wiener-Vacher S, Cordier-Bouvier MD, Goudeffroye G, Attié-Bitach T, Marlin S.
    Eur J Med Genet; 2016 Apr 15; 59(4):195-7. PubMed ID: 26921530
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  • 17. [Molecular diagnosis of CHARGE syndrom].
    Pedersen AM, Skovby F.
    Ugeskr Laeger; 2007 Jan 29; 169(5):402-6. PubMed ID: 17280632
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  • 19. Symmetrical Chorioretinal Colobomata with Craniovertebral Junction Anomalies in CHARGE Syndrome - A Case Report with Review of Literature.
    Natung T, Goyal A, Handique A, Kapoor M.
    J Clin Imaging Sci; 2014 Jan 29; 4():5. PubMed ID: 24678437
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  • 20. Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients.
    Sohn YB, Ko JM, Shin CH, Yang SW, Chae JH, Lee KA.
    J Hum Genet; 2016 Mar 29; 61(3):235-9. PubMed ID: 26538304
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